Head of Bioinformatics
OMIM Data Integration
We are very pleased to be incorporating the first phase of the integration of the OMIM database into our VarSome Clinical and VarSome Premium platforms. This database has been eagerly awaited by many of our users.
OMIM contains annotations for both variants and genes: a new OMIM component has been added accordingly to both the variant and gene pages in VarSome Premium and VarSome Clinical.
OMIM data will be updated every two weeks:
Click here for more information about OMIM.
In future, VarSome’s ACMG classifier will leverage OMIM to identify the mode of inheritance and phenotypes linked to a given gene or variant, matching these to the proband’s phenotypes.
We display a summary table of related OMIM phenotype information for each gene.
Additional gene information from OMIM is displayed below the table. This includes information such as gene description, nomenclature, cloning and expression, gene structure, mapping, function etc.
You can link directly to OMIM to review related phenotypes in greater detail.
OMIM - Variant information
A new tab will be displayed if OMIM data is available:
OMIM - Gene information
Based on customer feedback, we have made a minor change to the ACMG classifier ensuring that rule PM4 triggers less frequently for intronic variants that could affect the canonical splice-site, requiring the position to be strongly conserved.
Further Information and Support
As ever we hope you find these changes and improvements helpful, we’d love to hear any suggestions you may have, support is available as usual from firstname.lastname@example.org
- The VarSome Team